Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28900664C>A | CA395411081 | ATP2A1 | c.1848C>A (p.Asp616Glu) c.1473C>A (p.Asp491Glu) | |
16 | g.28900664C= | CA2215884598 | ATP2A1 | c.1848C= (p.Asp616=) c.1473C= (p.Asp491=) | |
16 | g.28900664C>G | CA395411080 | ATP2A1 | c.1848C>G (p.Asp616Glu) c.1473C>G (p.Asp491Glu) | |
16 | g.28900664C>T | CA7987099 | ATP2A1 | c.1848C>T (p.Asp616=) c.1473C>T (p.Asp491=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900665G>A | CA395411082 | ATP2A1 | c.1849G>A (p.Ala617Thr) c.1474G>A (p.Ala492Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900665G>C | CA395411083 | ATP2A1 | c.1849G>C (p.Ala617Pro) c.1474G>C (p.Ala492Pro) | |
16 | g.28900665G= | CA2215884606 | ATP2A1 | c.1849G= (p.Ala617=) c.1474G= (p.Ala492=) | |
16 | g.28900665G>T | CA395411084 | ATP2A1 | c.1849G>T (p.Ala617Ser) c.1474G>T (p.Ala492Ser) | |
16 | g.28900666C>A | CA395411085 | ATP2A1 | c.1850C>A (p.Ala617Asp) c.1475C>A (p.Ala492Asp) | |
16 | g.28900666C>G | CA395411086 | ATP2A1 | c.1850C>G (p.Ala617Gly) c.1475C>G (p.Ala492Gly) | |
16 | g.28900666C>T | CA395411087 | ATP2A1 | c.1850C>T (p.Ala617Val) c.1475C>T (p.Ala492Val) | |
16 | g.28900667C>A | CA7987101 | ATP2A1 | c.1851C>A (p.Ala617=) c.1476C>A (p.Ala492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900667C= | CA2215884617 | ATP2A1 | c.1851C= (p.Ala617=) c.1476C= (p.Ala492=) | |
16 | g.28900667C>G | CA494874332 | ATP2A1 | c.1851C>G (p.Ala617=) c.1476C>G (p.Ala492=) | dbSNP gnomAD v4 |
16 | g.28900667C>T | CA7987100 | ATP2A1 | c.1851C>T (p.Ala617=) c.1476C>T (p.Ala492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900668G>A | CA7987102 | ATP2A1 | c.1852G>A (p.Gly618Arg) c.1477G>A (p.Gly493Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900668G>C | CA395411088 | ATP2A1 | c.1852G>C (p.Gly618Arg) c.1477G>C (p.Gly493Arg) | |
16 | g.28900668G= | CA2215884632 | ATP2A1 | c.1852G= (p.Gly618=) c.1477G= (p.Gly493=) | |
16 | g.28900668G>T | CA395411089 | ATP2A1 | c.1852G>T (p.Gly618Trp) c.1477G>T (p.Gly493Trp) | |
16 | g.28900669G>A | CA395411090 | ATP2A1 | c.1853G>A (p.Gly618Glu) c.1478G>A (p.Gly493Glu) | |
16 | g.28900669G>C | CA395411091 | ATP2A1 | c.1853G>C (p.Gly618Ala) c.1478G>C (p.Gly493Ala) | |
16 | g.28900669G>T | CA395411092 | ATP2A1 | c.1853G>T (p.Gly618Val) c.1478G>T (p.Gly493Val) | |
16 | g.28900670G>A | CA7987103 | ATP2A1 | c.1854G>A (p.Gly618=) c.1479G>A (p.Gly493=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.28900670G>C | CA494874333 | ATP2A1 | c.1854G>C (p.Gly618=) c.1479G>C (p.Gly493=) | |
16 | g.28900670G= | CA2215884637 | ATP2A1 | c.1854G= (p.Gly618=) c.1479G= (p.Gly493=) | |
16 | g.28900670G>T | CA494874334 | ATP2A1 | c.1854G>T (p.Gly618=) c.1479G>T (p.Gly493=) | |
16 | g.28900671A>C | CA395411093 | ATP2A1 | c.1855A>C (p.Ile619Leu) c.1480A>C (p.Ile494Leu) | |
16 | g.28900671A>G | CA395411094 | ATP2A1 | c.1855A>G (p.Ile619Val) c.1480A>G (p.Ile494Val) | gnomAD v4 |
16 | g.28900671A>T | CA395411095 | ATP2A1 | c.1855A>T (p.Ile619Phe) c.1480A>T (p.Ile494Phe) | |
16 | g.28900672T>A | CA395411096 | ATP2A1 | c.1856T>A (p.Ile619Asn) c.1481T>A (p.Ile494Asn) | |
16 | g.28900672T>C | CA395411097 | ATP2A1 | c.1856T>C (p.Ile619Thr) c.1481T>C (p.Ile494Thr) | |
16 | g.28900672T>G | CA395411098 | ATP2A1 | c.1856T>G (p.Ile619Ser) c.1481T>G (p.Ile494Ser) | |
16 | g.28900673C>A | CA494874336 | ATP2A1 | c.1857C>A (p.Ile619=) c.1482C>A (p.Ile494=) | |
16 | g.28900673C>G | CA395411099 | ATP2A1 | c.1857C>G (p.Ile619Met) c.1482C>G (p.Ile494Met) | |
16 | g.28900673C>T | CA494874335 | ATP2A1 | c.1857C>T (p.Ile619=) c.1482C>T (p.Ile494=) | |
16 | g.28900674C>A | CA494874337 | ATP2A1 | c.1858C>A (p.Arg620=) c.1483C>A (p.Arg495=) | |
16 | g.28900674C= | CA2215884643 | ATP2A1 | c.1858C= (p.Arg620=) c.1483C= (p.Arg495=) | |
16 | g.28900674C>G | CA395411100 | ATP2A1 | c.1858C>G (p.Arg620Gly) c.1483C>G (p.Arg495Gly) | |
16 | g.28900674C>T | CA7987104 | ATP2A1 | c.1858C>T (p.Arg620Trp) c.1483C>T (p.Arg495Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900675G>A | CA7987105 | ATP2A1 | c.1859G>A (p.Arg620Gln) c.1484G>A (p.Arg495Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900675G>C | CA395411101 | ATP2A1 | c.1859G>C (p.Arg620Pro) c.1484G>C (p.Arg495Pro) | |
16 | g.28900675G= | CA2215884654 | ATP2A1 | c.1859G= (p.Arg620=) c.1484G= (p.Arg495=) | |
16 | g.28900675G>T | CA395411102 | ATP2A1 | c.1859G>T (p.Arg620Leu) c.1484G>T (p.Arg495Leu) | |
16 | g.28900676G>A | CA494874338 | ATP2A1 | c.1860G>A (p.Arg620=) c.1485G>A (p.Arg495=) | dbSNP |
16 | g.28900676G>C | CA494874339 | ATP2A1 | c.1860G>C (p.Arg620=) c.1485G>C (p.Arg495=) | |
16 | g.28900676G= | CA2215884664 | ATP2A1 | c.1860G= (p.Arg620=) c.1485G= (p.Arg495=) | |
16 | g.28900676G>T | CA494874340 | ATP2A1 | c.1860G>T (p.Arg620=) c.1485G>T (p.Arg495=) | |
16 | g.28900677G>A | CA395411105 | ATP2A1 | c.1861G>A (p.Val621Met) c.1486G>A (p.Val496Met) | |
16 | g.28900677G>C | CA395411104 | ATP2A1 | c.1861G>C (p.Val621Leu) c.1486G>C (p.Val496Leu) | |
16 | g.28900677G>T | CA395411103 | ATP2A1 | c.1861G>T (p.Val621Leu) c.1486G>T (p.Val496Leu) | |
16 | g.28900678T>A | CA395411106 | ATP2A1 | c.1862T>A (p.Val621Glu) c.1487T>A (p.Val496Glu) | |
16 | g.28900678T>C | CA395411107 | ATP2A1 | c.1862T>C (p.Val621Ala) c.1487T>C (p.Val496Ala) | |
16 | g.28900678T>G | CA395411108 | ATP2A1 | c.1862T>G (p.Val621Gly) c.1487T>G (p.Val496Gly) | dbSNP |
16 | g.28900678T= | CA2215884667 | ATP2A1 | c.1862T= (p.Val621=) c.1487T= (p.Val496=) | |
16 | g.28900679G>A | CA494874341 | ATP2A1 | c.1863G>A (p.Val621=) c.1488G>A (p.Val496=) | |
16 | g.28900679G>C | CA494874342 | ATP2A1 | c.1863G>C (p.Val621=) c.1488G>C (p.Val496=) | dbSNP |
16 | g.28900679G= | CA2215884671 | ATP2A1 | c.1863G= (p.Val621=) c.1488G= (p.Val496=) | |
16 | g.28900679G>T | CA494874343 | ATP2A1 | c.1863G>T (p.Val621=) c.1488G>T (p.Val496=) | |
16 | g.28900680A>C | CA395411109 | ATP2A1 | c.1864A>C (p.Ile622Leu) c.1489A>C (p.Ile497Leu) | |
16 | g.28900680A>G | CA395411110 | ATP2A1 | c.1864A>G (p.Ile622Val) c.1489A>G (p.Ile497Val) | gnomAD v4 |
16 | g.28900680A>T | CA395411111 | ATP2A1 | c.1864A>T (p.Ile622Phe) c.1489A>T (p.Ile497Phe) | gnomAD v4 |
16 | g.28900681T>A | CA395411114 | ATP2A1 | c.1865T>A (p.Ile622Asn) c.1490T>A (p.Ile497Asn) | |
16 | g.28900681T>C | CA395411112 | ATP2A1 | c.1865T>C (p.Ile622Thr) c.1490T>C (p.Ile497Thr) | |
16 | g.28900681T>G | CA395411113 | ATP2A1 | c.1865T>G (p.Ile622Ser) c.1490T>G (p.Ile497Ser) | |
16 | g.28900682C>A | CA494874344 | ATP2A1 | c.1866C>A (p.Ile622=) c.1491C>A (p.Ile497=) | |
16 | g.28900682C= | CA2215884673 | ATP2A1 | c.1866C= (p.Ile622=) c.1491C= (p.Ile497=) | |
16 | g.28900682C>G | CA395411115 | ATP2A1 | c.1866C>G (p.Ile622Met) c.1491C>G (p.Ile497Met) | |
16 | g.28900682C>T | CA279240193 | ATP2A1 | c.1866C>T (p.Ile622=) c.1491C>T (p.Ile497=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900683A>C | CA395411116 | ATP2A1 | c.1867A>C (p.Met623Leu) c.1492A>C (p.Met498Leu) | |
16 | g.28900683A>G | CA395411117 | ATP2A1 | c.1867A>G (p.Met623Val) c.1492A>G (p.Met498Val) | gnomAD v4 |
16 | g.28900683A>T | CA395411118 | ATP2A1 | c.1867A>T (p.Met623Leu) c.1492A>T (p.Met498Leu) | |
16 | g.28900684T>A | CA395411121 | ATP2A1 | c.1868T>A (p.Met623Lys) c.1493T>A (p.Met498Lys) | |
16 | g.28900684T>C | CA395411119 | ATP2A1 | c.1868T>C (p.Met623Thr) c.1493T>C (p.Met498Thr) | |
16 | g.28900684T>G | CA395411120 | ATP2A1 | c.1868T>G (p.Met623Arg) c.1493T>G (p.Met498Arg) | |
16 | g.28900685G>A | CA395411122 | ATP2A1 | c.1869G>A (p.Met623Ile) c.1494G>A (p.Met498Ile) | gnomAD v4 |
16 | g.28900685G>C | CA395411123 | ATP2A1 | c.1869G>C (p.Met623Ile) c.1494G>C (p.Met498Ile) | |
16 | g.28900685G= | CA2215884680 | ATP2A1 | c.1869G= (p.Met623=) c.1494G= (p.Met498=) | |
16 | g.28900685G>T | CA7987106 | ATP2A1 | c.1869G>T (p.Met623Ile) c.1494G>T (p.Met498Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900686A>C | CA395411124 | ATP2A1 | c.1870A>C (p.Ile624Leu) c.1495A>C (p.Ile499Leu) | |
16 | g.28900686A>G | CA395411125 | ATP2A1 | c.1870A>G (p.Ile624Val) c.1495A>G (p.Ile499Val) | |
16 | g.28900686A>T | CA395411126 | ATP2A1 | c.1870A>T (p.Ile624Phe) c.1495A>T (p.Ile499Phe) | |
16 | g.28900687T>A | CA395411127 | ATP2A1 | c.1871T>A (p.Ile624Asn) c.1496T>A (p.Ile499Asn) | |
16 | g.28900687T>C | CA395411128 | ATP2A1 | c.1871T>C (p.Ile624Thr) c.1496T>C (p.Ile499Thr) | |
16 | g.28900687T>G | CA395411129 | ATP2A1 | c.1871T>G (p.Ile624Ser) c.1496T>G (p.Ile499Ser) | |
16 | g.28900688C>A | CA494874345 | ATP2A1 | c.1872C>A (p.Ile624=) c.1497C>A (p.Ile499=) | |
16 | g.28900688C>G | CA395411130 | ATP2A1 | c.1872C>G (p.Ile624Met) c.1497C>G (p.Ile499Met) | |
16 | g.28900688C>T | CA494874346 | ATP2A1 | c.1872C>T (p.Ile624=) c.1497C>T (p.Ile499=) | |
16 | g.28900689A= | CA2215884685 | ATP2A1 | c.1873A= (p.Thr625=) c.1498A= (p.Thr500=) | |
16 | g.28900689A>C | CA395411131 | ATP2A1 | c.1873A>C (p.Thr625Pro) c.1498A>C (p.Thr500Pro) | |
16 | g.28900689A>G | CA395411132 | ATP2A1 | c.1873A>G (p.Thr625Ala) c.1498A>G (p.Thr500Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900689A>T | CA395411133 | ATP2A1 | c.1873A>T (p.Thr625Ser) c.1498A>T (p.Thr500Ser) | |
16 | g.28900690C>A | CA395411134 | ATP2A1 | c.1874C>A (p.Thr625Asn) c.1499C>A (p.Thr500Asn) | |
16 | g.28900690C>G | CA395411136 | ATP2A1 | c.1874C>G (p.Thr625Ser) c.1499C>G (p.Thr500Ser) | |
16 | g.28900690C>T | CA395411135 | ATP2A1 | c.1874C>T (p.Thr625Ile) c.1499C>T (p.Thr500Ile) | |
16 | g.28900691T>A | CA494874347 | ATP2A1 | c.1875T>A (p.Thr625=) c.1500T>A (p.Thr500=) | |
16 | g.28900691T>C | CA494874348 | ATP2A1 | c.1875T>C (p.Thr625=) c.1500T>C (p.Thr500=) | |
16 | g.28900691T>G | CA494874349 | ATP2A1 | c.1875T>G (p.Thr625=) c.1500T>G (p.Thr500=) | |
16 | g.28900692G>A | CA395411137 | ATP2A1 | c.1876G>A (p.Gly626Arg) c.1501G>A (p.Gly501Arg) | |
16 | g.28900692G>C | CA395411138 | ATP2A1 | c.1876G>C (p.Gly626Arg) c.1501G>C (p.Gly501Arg) | |
16 | g.28900692G>T | CA395411139 | ATP2A1 | c.1876G>T (p.Gly626Trp) c.1501G>T (p.Gly501Trp) | |
16 | g.28900693G>A | CA395411140 | ATP2A1 | c.1877G>A (p.Gly626Glu) c.1502G>A (p.Gly501Glu) | gnomAD v4 |
16 | g.28900693G>C | CA395411141 | ATP2A1 | c.1877G>C (p.Gly626Ala) c.1502G>C (p.Gly501Ala) | |
16 | g.28900693G>T | CA395411142 | ATP2A1 | c.1877G>T (p.Gly626Val) c.1502G>T (p.Gly501Val) | |
16 | g.28900694G>A | CA494874352 | ATP2A1 | c.1878G>A (p.Gly626=) c.1503G>A (p.Gly501=) | |
16 | g.28900694G>C | CA494874350 | ATP2A1 | c.1878G>C (p.Gly626=) c.1503G>C (p.Gly501=) | gnomAD v4 |
16 | g.28900694G>T | CA494874351 | ATP2A1 | c.1878G>T (p.Gly626=) c.1503G>T (p.Gly501=) | |
16 | g.28900695G>A | CA395411145 | ATP2A1 | c.1879G>A (p.Asp627Asn) c.1504G>A (p.Asp502Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900695G>C | CA395411143 | ATP2A1 | c.1879G>C (p.Asp627His) c.1504G>C (p.Asp502His) | |
16 | g.28900695G= | CA2215884692 | ATP2A1 | c.1879G= (p.Asp627=) c.1504G= (p.Asp502=) | |
16 | g.28900695G>T | CA395411144 | ATP2A1 | c.1879G>T (p.Asp627Tyr) c.1504G>T (p.Asp502Tyr) | |
16 | g.28900696A>C | CA395411146 | ATP2A1 | c.1880A>C (p.Asp627Ala) c.1505A>C (p.Asp502Ala) | |
16 | g.28900696A>G | CA395411147 | ATP2A1 | c.1880A>G (p.Asp627Gly) c.1505A>G (p.Asp502Gly) | |
16 | g.28900696A>T | CA395411148 | ATP2A1 | c.1880A>T (p.Asp627Val) c.1505A>T (p.Asp502Val) | |
16 | g.28900700_28900702del | CA2575960521 | ATP2A1 | c.1884_1886del (p.Asn628del) c.1509_1511del (p.Asn503del) | gnomAD v4 |
16 | g.28900697C>A | CA395411149 | ATP2A1 | c.1881C>A (p.Asp627Glu) c.1506C>A (p.Asp502Glu) | |
16 | g.28900697C>G | CA395411150 | ATP2A1 | c.1881C>G (p.Asp627Glu) c.1506C>G (p.Asp502Glu) | gnomAD v4 |
16 | g.28900697C>T | CA494874353 | ATP2A1 | c.1881C>T (p.Asp627=) c.1506C>T (p.Asp502=) | |
16 | g.28900698A= | CA2215884695 | ATP2A1 | c.1882A= (p.Asn628=) c.1507A= (p.Asn503=) | |
16 | g.28900698A>C | CA395411151 | ATP2A1 | c.1882A>C (p.Asn628His) c.1507A>C (p.Asn503His) | |
16 | g.28900698A>G | CA395411153 | ATP2A1 | c.1882A>G (p.Asn628Asp) c.1507A>G (p.Asn503Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900698A>T | CA395411152 | ATP2A1 | c.1882A>T (p.Asn628Tyr) c.1507A>T (p.Asn503Tyr) | |
16 | g.28900699A= | CA2215884702 | ATP2A1 | c.1883A= (p.Asn628=) c.1508A= (p.Asn503=) | |
16 | g.28900699A>C | CA395411154 | ATP2A1 | c.1883A>C (p.Asn628Thr) c.1508A>C (p.Asn503Thr) | |
16 | g.28900699A>G | CA7987107 | ATP2A1 | c.1883A>G (p.Asn628Ser) c.1508A>G (p.Asn503Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900699A>T | CA395411155 | ATP2A1 | c.1883A>T (p.Asn628Ile) c.1508A>T (p.Asn503Ile) | |
16 | g.28900700C>A | CA395411156 | ATP2A1 | c.1884C>A (p.Asn628Lys) c.1509C>A (p.Asn503Lys) | |
16 | g.28900700C>G | CA395411157 | ATP2A1 | c.1884C>G (p.Asn628Lys) c.1509C>G (p.Asn503Lys) | |
16 | g.28900700C>T | CA494874354 | ATP2A1 | c.1884C>T (p.Asn628=) c.1509C>T (p.Asn503=) | |
16 | g.28900700_28900701delinsCA | CA2215884706 | ATP2A1 | c.1884_1885delinsCA (p.Asn628=) c.1509_1510delinsCA (p.Asn503=) | |
16 | g.28900701A>C | CA395411158 | ATP2A1 | c.1885A>C (p.Lys629Gln) c.1510A>C (p.Lys504Gln) | |
16 | g.28900701A>G | CA395411159 | ATP2A1 | c.1885A>G (p.Lys629Glu) c.1510A>G (p.Lys504Glu) | gnomAD v4 |
16 | g.28900701A>T | CA395411160 | ATP2A1 | c.1885A>T (p.Lys629Ter) c.1510A>T (p.Lys504Ter) | |
16 | g.28900702dup | CA2632539944 | ATP2A1 | c.1886dup (p.Thr631HisfsTer?) c.1511dup (p.Thr506HisfsTer?) | gnomAD v4 |
16 | g.28900702del | CA2215884709 | ATP2A1 | c.1886del (p.Lys629ArgfsTer?) c.1511del (p.Lys504ArgfsTer?) | dbSNP |
16 | g.28900702A= | CA2215884716 | ATP2A1 | c.1886A= (p.Lys629=) c.1511A= (p.Lys504=) | |
16 | g.28900702A>C | CA7987108 | ATP2A1 | c.1886A>C (p.Lys629Thr) c.1511A>C (p.Lys504Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900702A>G | CA395411161 | ATP2A1 | c.1886A>G (p.Lys629Arg) c.1511A>G (p.Lys504Arg) | gnomAD v4 |
16 | g.28900702A>T | CA395411162 | ATP2A1 | c.1886A>T (p.Lys629Met) c.1511A>T (p.Lys504Met) | |
16 | g.28900703G>A | CA494874355 | ATP2A1 | c.1887G>A (p.Lys629=) c.1512G>A (p.Lys504=) | |
16 | g.28900703G>C | CA395411163 | ATP2A1 | c.1887G>C (p.Lys629Asn) c.1512G>C (p.Lys504Asn) | gnomAD v4 |
16 | g.28900703G>T | CA395411164 | ATP2A1 | c.1887G>T (p.Lys629Asn) c.1512G>T (p.Lys504Asn) | |
16 | g.28900704G>A | CA279240229 | ATP2A1 | c.1888G>A (p.Gly630Ser) c.1513G>A (p.Gly505Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900704G>C | CA395411166 | ATP2A1 | c.1888G>C (p.Gly630Arg) c.1513G>C (p.Gly505Arg) | |
16 | g.28900704G= | CA2215884723 | ATP2A1 | c.1888G= (p.Gly630=) c.1513G= (p.Gly505=) | |
16 | g.28900704G>T | CA395411165 | ATP2A1 | c.1888G>T (p.Gly630Cys) c.1513G>T (p.Gly505Cys) | |
16 | g.28900705G>A | CA395411167 | ATP2A1 | c.1889G>A (p.Gly630Asp) c.1514G>A (p.Gly505Asp) | |
16 | g.28900705G>C | CA395411168 | ATP2A1 | c.1889G>C (p.Gly630Ala) c.1514G>C (p.Gly505Ala) | |
16 | g.28900705G>T | CA395411169 | ATP2A1 | c.1889G>T (p.Gly630Val) c.1514G>T (p.Gly505Val) | |
16 | g.28900706C>A | CA494874356 | ATP2A1 | c.1890C>A (p.Gly630=) c.1515C>A (p.Gly505=) | |
16 | g.28900706C>G | CA494874357 | ATP2A1 | c.1890C>G (p.Gly630=) c.1515C>G (p.Gly505=) | |
16 | g.28900706C>T | CA494874358 | ATP2A1 | c.1890C>T (p.Gly630=) c.1515C>T (p.Gly505=) | |
16 | g.28900707A>C | CA395411170 | ATP2A1 | c.1891A>C (p.Thr631Pro) c.1516A>C (p.Thr506Pro) | |
16 | g.28900707A>G | CA395411171 | ATP2A1 | c.1891A>G (p.Thr631Ala) c.1516A>G (p.Thr506Ala) | |
16 | g.28900707A>T | CA395411172 | ATP2A1 | c.1891A>T (p.Thr631Ser) c.1516A>T (p.Thr506Ser) | |
16 | g.28900708C>A | CA395411173 | ATP2A1 | c.1892C>A (p.Thr631Lys) c.1517C>A (p.Thr506Lys) | |
16 | g.28900708C= | CA2215884727 | ATP2A1 | c.1892C= (p.Thr631=) c.1517C= (p.Thr506=) | |
16 | g.28900708C>G | CA7987109 | ATP2A1 | c.1892C>G (p.Thr631Arg) c.1517C>G (p.Thr506Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900708C>T | CA395411174 | ATP2A1 | c.1892C>T (p.Thr631Ile) c.1517C>T (p.Thr506Ile) | gnomAD v4 |
16 | g.28900709A= | CA2215884733 | ATP2A1 | c.1893A= (p.Thr631=) c.1518A= (p.Thr506=) | |
16 | g.28900709A>C | CA494874359 | ATP2A1 | c.1893A>C (p.Thr631=) c.1518A>C (p.Thr506=) | |
16 | g.28900709A>G | CA494874360 | ATP2A1 | c.1893A>G (p.Thr631=) c.1518A>G (p.Thr506=) | dbSNP |
16 | g.28900709A>T | CA494874361 | ATP2A1 | c.1893A>T (p.Thr631=) c.1518A>T (p.Thr506=) | |
16 | g.28900710G>A | CA395411175 | ATP2A1 | c.1894G>A (p.Ala632Thr) c.1519G>A (p.Ala507Thr) | |
16 | g.28900710G>C | CA395411176 | ATP2A1 | c.1894G>C (p.Ala632Pro) c.1519G>C (p.Ala507Pro) | gnomAD v4 |
16 | g.28900710G>T | CA395411177 | ATP2A1 | c.1894G>T (p.Ala632Ser) c.1519G>T (p.Ala507Ser) | |
16 | g.28900711C>A | CA395411180 | ATP2A1 | c.1895C>A (p.Ala632Asp) c.1520C>A (p.Ala507Asp) | |
16 | g.28900711C>G | CA395411178 | ATP2A1 | c.1895C>G (p.Ala632Gly) c.1520C>G (p.Ala507Gly) | |
16 | g.28900711C>T | CA395411179 | ATP2A1 | c.1895C>T (p.Ala632Val) c.1520C>T (p.Ala507Val) | |
16 | g.28900712C>A | CA494874362 | ATP2A1 | c.1896C>A (p.Ala632=) c.1521C>A (p.Ala507=) | |
16 | g.28900712C= | CA2215884736 | ATP2A1 | c.1896C= (p.Ala632=) c.1521C= (p.Ala507=) | |
16 | g.28900712C>G | CA494874363 | ATP2A1 | c.1896C>G (p.Ala632=) c.1521C>G (p.Ala507=) | |
16 | g.28900712C>T | CA494874364 | ATP2A1 | c.1896C>T (p.Ala632=) c.1521C>T (p.Ala507=) | dbSNP gnomAD v2 |
16 | g.28900713A>C | CA395411181 | ATP2A1 | c.1897A>C (p.Ile633Leu) c.1522A>C (p.Ile508Leu) | |
16 | g.28900713A>G | CA395411182 | ATP2A1 | c.1897A>G (p.Ile633Val) c.1522A>G (p.Ile508Val) | |
16 | g.28900713A>T | CA395411183 | ATP2A1 | c.1897A>T (p.Ile633Phe) c.1522A>T (p.Ile508Phe) | |
16 | g.28900714T>A | CA395411184 | ATP2A1 | c.1898T>A (p.Ile633Asn) c.1523T>A (p.Ile508Asn) | |
16 | g.28900714T>C | CA395411185 | ATP2A1 | c.1898T>C (p.Ile633Thr) c.1523T>C (p.Ile508Thr) | |
16 | g.28900714T>G | CA395411186 | ATP2A1 | c.1898T>G (p.Ile633Ser) c.1523T>G (p.Ile508Ser) | |
16 | g.28900715T>A | CA494874365 | ATP2A1 | c.1899T>A (p.Ile633=) c.1524T>A (p.Ile508=) | |
16 | g.28900715T>C | CA279240233 | ATP2A1 | c.1899T>C (p.Ile633=) c.1524T>C (p.Ile508=) | ClinVar dbSNP |
16 | g.28900715T>G | CA395411187 | ATP2A1 | c.1899T>G (p.Ile633Met) c.1524T>G (p.Ile508Met) | |
16 | g.28900715T= | CA2215884746 | ATP2A1 | c.1899T= (p.Ile633=) c.1524T= (p.Ile508=) | |
16 | g.28900716G>A | CA395411188 | ATP2A1 | c.1900G>A (p.Ala634Thr) c.1525G>A (p.Ala509Thr) | |
16 | g.28900716G>C | CA395411189 | ATP2A1 | c.1900G>C (p.Ala634Pro) c.1525G>C (p.Ala509Pro) | |
16 | g.28900716G>T | CA395411190 | ATP2A1 | c.1900G>T (p.Ala634Ser) c.1525G>T (p.Ala509Ser) | |
16 | g.28900717C>A | CA395411193 | ATP2A1 | c.1901C>A (p.Ala634Asp) c.1526C>A (p.Ala509Asp) | |
16 | g.28900717C>G | CA395411192 | ATP2A1 | c.1901C>G (p.Ala634Gly) c.1526C>G (p.Ala509Gly) | |
16 | g.28900717C>T | CA395411191 | ATP2A1 | c.1901C>T (p.Ala634Val) c.1526C>T (p.Ala509Val) | gnomAD v4 |
16 | g.28900718C>A | CA494874366 | ATP2A1 | c.1902C>A (p.Ala634=) c.1527C>A (p.Ala509=) | |
16 | g.28900718C>G | CA494874367 | ATP2A1 | c.1902C>G (p.Ala634=) c.1527C>G (p.Ala509=) | |
16 | g.28900718C>T | CA494874368 | ATP2A1 | c.1902C>T (p.Ala634=) c.1527C>T (p.Ala509=) | |
16 | g.28900719A>C | CA395411196 | ATP2A1 | c.1903A>C (p.Ile635Leu) c.1528A>C (p.Ile510Leu) | |
16 | g.28900719A>G | CA395411194 | ATP2A1 | c.1903A>G (p.Ile635Val) c.1528A>G (p.Ile510Val) | |
16 | g.28900719A>T | CA395411195 | ATP2A1 | c.1903A>T (p.Ile635Phe) c.1528A>T (p.Ile510Phe) | |
16 | g.28900720T>A | CA395411197 | ATP2A1 | c.1904T>A (p.Ile635Asn) c.1529T>A (p.Ile510Asn) | |
16 | g.28900720T>C | CA395411198 | ATP2A1 | c.1904T>C (p.Ile635Thr) c.1529T>C (p.Ile510Thr) | |
16 | g.28900720T>G | CA395411199 | ATP2A1 | c.1904T>G (p.Ile635Ser) c.1529T>G (p.Ile510Ser) | |
16 | g.28900721C>A | CA494874369 | ATP2A1 | c.1905C>A (p.Ile635=) c.1530C>A (p.Ile510=) | |
16 | g.28900721C= | CA2215884750 | ATP2A1 | c.1905C= (p.Ile635=) c.1530C= (p.Ile510=) | |
16 | g.28900721C>G | CA395411200 | ATP2A1 | c.1905C>G (p.Ile635Met) c.1530C>G (p.Ile510Met) | |
16 | g.28900721C>T | CA7987110 | ATP2A1 | c.1905C>T (p.Ile635=) c.1530C>T (p.Ile510=) | dbSNP ExAC gnomAD v2 |
16 | g.28900722T>A | CA395411201 | ATP2A1 | c.1906T>A (p.Cys636Ser) c.1531T>A (p.Cys511Ser) | |
16 | g.28900722T>C | CA395411202 | ATP2A1 | c.1906T>C (p.Cys636Arg) c.1531T>C (p.Cys511Arg) | |
16 | g.28900722T>G | CA395411203 | ATP2A1 | c.1906T>G (p.Cys636Gly) c.1531T>G (p.Cys511Gly) | |
16 | g.28900723G>A | CA395411204 | ATP2A1 | c.1907G>A (p.Cys636Tyr) c.1532G>A (p.Cys511Tyr) | |
16 | g.28900723G>C | CA395411205 | ATP2A1 | c.1907G>C (p.Cys636Ser) c.1532G>C (p.Cys511Ser) | |
16 | g.28900723G>T | CA395411206 | ATP2A1 | c.1907G>T (p.Cys636Phe) c.1532G>T (p.Cys511Phe) | |
16 | g.28900724C>A | CA395411208 | ATP2A1 | c.1908C>A (p.Cys636Ter) c.1533C>A (p.Cys511Ter) | |
16 | g.28900724C= | CA2215884754 | ATP2A1 | c.1908C= (p.Cys636=) c.1533C= (p.Cys511=) | |
16 | g.28900724C>G | CA395411207 | ATP2A1 | c.1908C>G (p.Cys636Trp) c.1533C>G (p.Cys511Trp) | |
16 | g.28900724C>T | CA494874370 | ATP2A1 | c.1908C>T (p.Cys636=) c.1533C>T (p.Cys511=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900725C>A | CA494874371 | ATP2A1 | c.1909C>A (p.Arg637=) c.1534C>A (p.Arg512=) | |
16 | g.28900725C= | CA2215884766 | ATP2A1 | c.1909C= (p.Arg637=) c.1534C= (p.Arg512=) | |
16 | g.28900725C>G | CA395411209 | ATP2A1 | c.1909C>G (p.Arg637Gly) c.1534C>G (p.Arg512Gly) | |
16 | g.28900725C>T | CA7987111 | ATP2A1 | c.1909C>T (p.Arg637Trp) c.1534C>T (p.Arg512Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900726G>A | CA7987112 | ATP2A1 | c.1910G>A (p.Arg637Gln) c.1535G>A (p.Arg512Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900726G>C | CA395411210 | ATP2A1 | c.1910G>C (p.Arg637Pro) c.1535G>C (p.Arg512Pro) | |
16 | g.28900726G= | CA2215884780 | ATP2A1 | c.1910G= (p.Arg637=) c.1535G= (p.Arg512=) | |
16 | g.28900726G>T | CA395411211 | ATP2A1 | c.1910G>T (p.Arg637Leu) c.1535G>T (p.Arg512Leu) | |
16 | g.28900727G>A | CA7987113 | ATP2A1 | c.1911G>A (p.Arg637=) c.1536G>A (p.Arg512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900727G>C | CA494874373 | ATP2A1 | c.1911G>C (p.Arg637=) c.1536G>C (p.Arg512=) | |
16 | g.28900727G= | CA2215884788 | ATP2A1 | c.1911G= (p.Arg637=) c.1536G= (p.Arg512=) | |
16 | g.28900727G>T | CA494874372 | ATP2A1 | c.1911G>T (p.Arg637=) c.1536G>T (p.Arg512=) | |
16 | g.28900728C>A | CA494874374 | ATP2A1 | c.1912C>A (p.Arg638=) c.1537C>A (p.Arg513=) | |
16 | g.28900728C= | CA2215884796 | ATP2A1 | c.1912C= (p.Arg638=) c.1537C= (p.Arg513=) | |
16 | g.28900728C>G | CA395411212 | ATP2A1 | c.1912C>G (p.Arg638Gly) c.1537C>G (p.Arg513Gly) | |
16 | g.28900728C>T | CA7987114 | ATP2A1 | c.1912C>T (p.Arg638Ter) c.1537C>T (p.Arg513Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900729G>A | CA7987115 | ATP2A1 | c.1913G>A (p.Arg638Gln) c.1538G>A (p.Arg513Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900729G>C | CA395411213 | ATP2A1 | c.1913G>C (p.Arg638Pro) c.1538G>C (p.Arg513Pro) | |
16 | g.28900729G= | CA2215884801 | ATP2A1 | c.1913G= (p.Arg638=) c.1538G= (p.Arg513=) | |
16 | g.28900729G>T | CA395411214 | ATP2A1 | c.1913G>T (p.Arg638Leu) c.1538G>T (p.Arg513Leu) | |
16 | g.28900730A= | CA2215884808 | ATP2A1 | c.1914A= (p.Arg638=) c.1539A= (p.Arg513=) | |
16 | g.28900730A>C | CA494874375 | ATP2A1 | c.1914A>C (p.Arg638=) c.1539A>C (p.Arg513=) | dbSNP |
16 | g.28900730A>G | CA494874376 | ATP2A1 | c.1914A>G (p.Arg638=) c.1539A>G (p.Arg513=) | ClinVar gnomAD v4 |
16 | g.28900730A>T | CA494874377 | ATP2A1 | c.1914A>T (p.Arg638=) c.1539A>T (p.Arg513=) | |
16 | g.28900731A>C | CA395411215 | ATP2A1 | c.1915A>C (p.Ile639Leu) c.1540A>C (p.Ile514Leu) | |
16 | g.28900731A>G | CA395411216 | ATP2A1 | c.1915A>G (p.Ile639Val) c.1540A>G (p.Ile514Val) | |
16 | g.28900731A>T | CA395411217 | ATP2A1 | c.1915A>T (p.Ile639Phe) c.1540A>T (p.Ile514Phe) | |
16 | g.28900732T>A | CA7987117 | ATP2A1 | c.1916T>A (p.Ile639Asn) c.1541T>A (p.Ile514Asn) | dbSNP ExAC gnomAD v2 |
16 | g.28900732T>C | CA7987116 | ATP2A1 | c.1916T>C (p.Ile639Thr) c.1541T>C (p.Ile514Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900732T>G | CA395411218 | ATP2A1 | c.1916T>G (p.Ile639Ser) c.1541T>G (p.Ile514Ser) | |
16 | g.28900732T= | CA2215884815 | ATP2A1 | c.1916T= (p.Ile639=) c.1541T= (p.Ile514=) | |
16 | g.28900733T>A | CA494874378 | ATP2A1 | c.1917T>A (p.Ile639=) c.1542T>A (p.Ile514=) | |
16 | g.28900733T>C | CA494874379 | ATP2A1 | c.1917T>C (p.Ile639=) c.1542T>C (p.Ile514=) | dbSNP |
16 | g.28900733T>G | CA7987118 | ATP2A1 | c.1917T>G (p.Ile639Met) c.1542T>G (p.Ile514Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900733T= | CA2215884821 | ATP2A1 | c.1917T= (p.Ile639=) c.1542T= (p.Ile514=) | |
16 | g.28900734G>A | CA395411219 | ATP2A1 | c.1918G>A (p.Gly640Ser) c.1543G>A (p.Gly515Ser) | gnomAD v4 |
16 | g.28900734G>C | CA395411220 | ATP2A1 | c.1918G>C (p.Gly640Arg) c.1543G>C (p.Gly515Arg) | |
16 | g.28900734G>T | CA395411221 | ATP2A1 | c.1918G>T (p.Gly640Cys) c.1543G>T (p.Gly515Cys) | |
16 | g.28900735G>A | CA395411222 | ATP2A1 | c.1919G>A (p.Gly640Asp) c.1544G>A (p.Gly515Asp) | gnomAD v4 |
16 | g.28900735G>C | CA395411223 | ATP2A1 | c.1919G>C (p.Gly640Ala) c.1544G>C (p.Gly515Ala) | |
16 | g.28900735G>T | CA395411224 | ATP2A1 | c.1919G>T (p.Gly640Val) c.1544G>T (p.Gly515Val) | |
16 | g.28900736C>A | CA494874380 | ATP2A1 | c.1920C>A (p.Gly640=) c.1545C>A (p.Gly515=) | |
16 | g.28900736C>G | CA494874381 | ATP2A1 | c.1920C>G (p.Gly640=) c.1545C>G (p.Gly515=) | |
16 | g.28900736C>T | CA494874382 | ATP2A1 | c.1920C>T (p.Gly640=) c.1545C>T (p.Gly515=) | |
16 | g.28900737A= | CA2215884835 | ATP2A1 | c.1921A= (p.Ile641=) c.1546A= (p.Ile516=) | |
16 | g.28900737A>C | CA395411227 | ATP2A1 | c.1921A>C (p.Ile641Leu) c.1546A>C (p.Ile516Leu) | |
16 | g.28900737A>G | CA395411225 | ATP2A1 | c.1921A>G (p.Ile641Val) c.1546A>G (p.Ile516Val) | dbSNP |
16 | g.28900737A>T | CA395411226 | ATP2A1 | c.1921A>T (p.Ile641Phe) c.1546A>T (p.Ile516Phe) | |
16 | g.28900738T>A | CA395411228 | ATP2A1 | c.1922T>A (p.Ile641Asn) c.1547T>A (p.Ile516Asn) | |
16 | g.28900738T>C | CA395411229 | ATP2A1 | c.1922T>C (p.Ile641Thr) c.1547T>C (p.Ile516Thr) | |
16 | g.28900738T>G | CA395411230 | ATP2A1 | c.1922T>G (p.Ile641Ser) c.1547T>G (p.Ile516Ser) | |
16 | g.28900739C>A | CA494874383 | ATP2A1 | c.1923C>A (p.Ile641=) c.1548C>A (p.Ile516=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900739C= | CA2215884842 | ATP2A1 | c.1923C= (p.Ile641=) c.1548C= (p.Ile516=) | |
16 | g.28900739C>G | CA395411231 | ATP2A1 | c.1923C>G (p.Ile641Met) c.1548C>G (p.Ile516Met) | |
16 | g.28900739C>T | CA7987119 | ATP2A1 | c.1923C>T (p.Ile641=) c.1548C>T (p.Ile516=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.28900740T>A | CA395411232 | ATP2A1 | c.1924T>A (p.Phe642Ile) c.1549T>A (p.Phe517Ile) | |
16 | g.28900740T>C | CA395411234 | ATP2A1 | c.1924T>C (p.Phe642Leu) c.1549T>C (p.Phe517Leu) | |
16 | g.28900740T>G | CA395411233 | ATP2A1 | c.1924T>G (p.Phe642Val) c.1549T>G (p.Phe517Val) | |
16 | g.28900741T>A | CA395411235 | ATP2A1 | c.1925T>A (p.Phe642Tyr) c.1550T>A (p.Phe517Tyr) | |
16 | g.28900741T>C | CA395411236 | ATP2A1 | c.1925T>C (p.Phe642Ser) c.1550T>C (p.Phe517Ser) | dbSNP |
16 | g.28900741T>G | CA395411237 | ATP2A1 | c.1925T>G (p.Phe642Cys) c.1550T>G (p.Phe517Cys) | |
16 | g.28900741T= | CA2215884848 | ATP2A1 | c.1925T= (p.Phe642=) c.1550T= (p.Phe517=) | |
16 | g.28900742T>A | CA395411238 | ATP2A1 | c.1926T>A (p.Phe642Leu) c.1551T>A (p.Phe517Leu) | |
16 | g.28900742T>C | CA494874384 | ATP2A1 | c.1926T>C (p.Phe642=) c.1551T>C (p.Phe517=) | dbSNP |
16 | g.28900742T>G | CA395411239 | ATP2A1 | c.1926T>G (p.Phe642Leu) c.1551T>G (p.Phe517Leu) | |
16 | g.28900742T= | CA2215884855 | ATP2A1 | c.1926T= (p.Phe642=) c.1551T= (p.Phe517=) | |
16 | g.28900743G>A | CA395411240 | ATP2A1 | c.1927G>A (p.Gly643Arg) c.1552G>A (p.Gly518Arg) | |
16 | g.28900743G>C | CA395411241 | ATP2A1 | c.1927G>C (p.Gly643Arg) c.1552G>C (p.Gly518Arg) | |
16 | g.28900743G>T | CA395411242 | ATP2A1 | c.1927G>T (p.Gly643Trp) c.1552G>T (p.Gly518Trp) | |
16 | g.28900746del | CA2632539945 | ATP2A1 | c.1930del (p.Glu644ArgfsTer?) c.1555del (p.Glu519ArgfsTer?) | gnomAD v4 |
16 | g.28900744G>A | CA395411243 | ATP2A1 | c.1928G>A (p.Gly643Glu) c.1553G>A (p.Gly518Glu) | gnomAD v4 |
16 | g.28900744G>C | CA279240302 | ATP2A1 | c.1928G>C (p.Gly643Ala) c.1553G>C (p.Gly518Ala) | dbSNP |
16 | g.28900744G= | CA2215884858 | ATP2A1 | c.1928G= (p.Gly643=) c.1553G= (p.Gly518=) | |
16 | g.28900744G>T | CA395411244 | ATP2A1 | c.1928G>T (p.Gly643Val) c.1553G>T (p.Gly518Val) | |
16 | g.28900745G>A | CA279240303 | ATP2A1 | c.1929G>A (p.Gly643=) c.1554G>A (p.Gly518=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900745G>C | CA494874385 | ATP2A1 | c.1929G>C (p.Gly643=) c.1554G>C (p.Gly518=) | |
16 | g.28900745G= | CA2215884865 | ATP2A1 | c.1929G= (p.Gly643=) c.1554G= (p.Gly518=) | |
16 | g.28900745G>T | CA494874386 | ATP2A1 | c.1929G>T (p.Gly643=) c.1554G>T (p.Gly518=) | gnomAD v4 |
16 | g.28900746G>A | CA395411247 | ATP2A1 | c.1930G>A (p.Glu644Lys) c.1555G>A (p.Glu519Lys) | |
16 | g.28900746G>C | CA395411245 | ATP2A1 | c.1930G>C (p.Glu644Gln) c.1555G>C (p.Glu519Gln) | |
16 | g.28900746G>T | CA395411246 | ATP2A1 | c.1930G>T (p.Glu644Ter) c.1555G>T (p.Glu519Ter) | |
16 | g.28900747A>C | CA395411248 | ATP2A1 | c.1931A>C (p.Glu644Ala) c.1556A>C (p.Glu519Ala) | |
16 | g.28900747A>G | CA395411249 | ATP2A1 | c.1931A>G (p.Glu644Gly) c.1556A>G (p.Glu519Gly) | gnomAD v4 |
16 | g.28900747A>T | CA395411250 | ATP2A1 | c.1931A>T (p.Glu644Val) c.1556A>T (p.Glu519Val) | |
16 | g.28900748G>A | CA279240308 | ATP2A1 | c.1932G>A (p.Glu644=) c.1557G>A (p.Glu519=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900748G>C | CA395411251 | ATP2A1 | c.1932G>C (p.Glu644Asp) c.1557G>C (p.Glu519Asp) | |
16 | g.28900748G= | CA2215884877 | ATP2A1 | c.1932G= (p.Glu644=) c.1557G= (p.Glu519=) | |
16 | g.28900748G>T | CA395411252 | ATP2A1 | c.1932G>T (p.Glu644Asp) c.1557G>T (p.Glu519Asp) | |
16 | g.28900749A>C | CA395411255 | ATP2A1 | c.1933A>C (p.Asn645His) c.1558A>C (p.Asn520His) | |
16 | g.28900749A>G | CA395411254 | ATP2A1 | c.1933A>G (p.Asn645Asp) c.1558A>G (p.Asn520Asp) | |
16 | g.28900749A>T | CA395411253 | ATP2A1 | c.1933A>T (p.Asn645Tyr) c.1558A>T (p.Asn520Tyr) | |
16 | g.28900750A>C | CA395411256 | ATP2A1 | c.1934A>C (p.Asn645Thr) c.1559A>C (p.Asn520Thr) | |
16 | g.28900750A>G | CA395411257 | ATP2A1 | c.1934A>G (p.Asn645Ser) c.1559A>G (p.Asn520Ser) | |
16 | g.28900750A>T | CA395411258 | ATP2A1 | c.1934A>T (p.Asn645Ile) c.1559A>T (p.Asn520Ile) | |
16 | g.28900751C>A | CA395411259 | ATP2A1 | c.1935C>A (p.Asn645Lys) c.1560C>A (p.Asn520Lys) | |
16 | g.28900751C= | CA2215884885 | ATP2A1 | c.1935C= (p.Asn645=) c.1560C= (p.Asn520=) | |
16 | g.28900751C>G | CA395411260 | ATP2A1 | c.1935C>G (p.Asn645Lys) c.1560C>G (p.Asn520Lys) | |
16 | g.28900751C>T | CA7987120 | ATP2A1 | c.1935C>T (p.Asn645=) c.1560C>T (p.Asn520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28900752G>A | CA7987121 | ATP2A1 | c.1936G>A (p.Glu646Lys) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G>C | CA7987122 | ATP2A1 | c.1936G>C (p.Glu646Gln) c.1561G>C (p.Glu521Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900752G= | CA2215884907 | ATP2A1 | c.1936G= (p.Glu646=) c.1561G= (p.Glu521=) | |
16 | g.28900752G>T | CA395411261 | ATP2A1 | c.1936G>T (p.Glu646Ter) c.1561G>T (p.Glu521Ter) | |
16 | g.28900756_28900758del | CA645573195 | ATP2A1 | c.1940_1942del (p.Glu647del) c.1565_1567del (p.Glu522del) | COSMIC COSMIC |
16 | g.28900753A>C | CA395411262 | ATP2A1 | c.1937A>C (p.Glu646Ala) c.1562A>C (p.Glu521Ala) | |
16 | g.28900753A>G | CA395411263 | ATP2A1 | c.1937A>G (p.Glu646Gly) c.1562A>G (p.Glu521Gly) | |
16 | g.28900753A>T | CA395411264 | ATP2A1 | c.1937A>T (p.Glu646Val) c.1562A>T (p.Glu521Val) | |
16 | g.28900754G>A | CA494874387 | ATP2A1 | c.1938G>A (p.Glu646=) c.1563G>A (p.Glu521=) | dbSNP |
16 | g.28900754G>C | CA395411265 | ATP2A1 | c.1938G>C (p.Glu646Asp) c.1563G>C (p.Glu521Asp) | ClinVar |
16 | g.28900754G= | CA2215884917 | ATP2A1 | c.1938G= (p.Glu646=) c.1563G= (p.Glu521=) | |
16 | g.28900754G>T | CA395411266 | ATP2A1 | c.1938G>T (p.Glu646Asp) c.1563G>T (p.Glu521Asp) | |
16 | g.28900755G>A | CA395411267 | ATP2A1 | c.1939G>A (p.Glu647Lys) c.1564G>A (p.Glu522Lys) | gnomAD v4 |
16 | g.28900755G>C | CA395411268 | ATP2A1 | c.1939G>C (p.Glu647Gln) c.1564G>C (p.Glu522Gln) | |
16 | g.28900755G>T | CA395411269 | ATP2A1 | c.1939G>T (p.Glu647Ter) c.1564G>T (p.Glu522Ter) | |
16 | g.28900756A>C | CA395411270 | ATP2A1 | c.1940A>C (p.Glu647Ala) c.1565A>C (p.Glu522Ala) | |
16 | g.28900756A>G | CA395411271 | ATP2A1 | c.1940A>G (p.Glu647Gly) c.1565A>G (p.Glu522Gly) | |
16 | g.28900756A>T | CA395411272 | ATP2A1 | c.1940A>T (p.Glu647Val) c.1565A>T (p.Glu522Val) | gnomAD v4 |
16 | g.28900757G>A | CA10643415 | ATP2A1 | c.1941G>A (p.Glu647=) c.1566G>A (p.Glu522=) | ClinVar dbSNP gnomAD v4 |
16 | g.28900757G>C | CA395411274 | ATP2A1 | c.1941G>C (p.Glu647Asp) c.1566G>C (p.Glu522Asp) | |
16 | g.28900757G= | CA2215884921 | ATP2A1 | c.1941G= (p.Glu647=) c.1566G= (p.Glu522=) | |
16 | g.28900757G>T | CA395411273 | ATP2A1 | c.1941G>T (p.Glu647Asp) c.1566G>T (p.Glu522Asp) | |
16 | g.28900758G>A | CA395411275 | ATP2A1 | c.1942G>A (p.Val648Met) c.1567G>A (p.Val523Met) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.28900758G>C | CA395411277 | ATP2A1 | c.1942G>C (p.Val648Leu) c.1567G>C (p.Val523Leu) | |
16 | g.28900758G= | CA2215884925 | ATP2A1 | c.1942G= (p.Val648=) c.1567G= (p.Val523=) | |
16 | g.28900758G>T | CA395411276 | ATP2A1 | c.1942G>T (p.Val648Leu) c.1567G>T (p.Val523Leu) | |
16 | g.28900759T>A | CA395411278 | ATP2A1 | c.1943T>A (p.Val648Glu) c.1568T>A (p.Val523Glu) | |
16 | g.28900759T>C | CA395411280 | ATP2A1 | c.1943T>C (p.Val648Ala) c.1568T>C (p.Val523Ala) | |
16 | g.28900759T>G | CA395411279 | ATP2A1 | c.1943T>G (p.Val648Gly) c.1568T>G (p.Val523Gly) | |
16 | g.28900760G>A | CA494874388 | ATP2A1 | c.1944G>A (p.Val648=) c.1569G>A (p.Val523=) | |
16 | g.28900760G>C | CA494874389 | ATP2A1 | c.1944G>C (p.Val648=) c.1569G>C (p.Val523=) | |
16 | g.28900760G>T | CA494874390 | ATP2A1 | c.1944G>T (p.Val648=) c.1569G>T (p.Val523=) | |
16 | g.28900761G>A | CA395411281 | ATP2A1 | c.1945G>A (p.Ala649Thr) c.1570G>A (p.Ala524Thr) | dbSNP |
16 | g.28900761G>C | CA395411282 | ATP2A1 | c.1945G>C (p.Ala649Pro) c.1570G>C (p.Ala524Pro) | |
16 | g.28900761G= | CA2215884932 | ATP2A1 | c.1945G= (p.Ala649=) c.1570G= (p.Ala524=) | |
16 | g.28900761G>T | CA395411283 | ATP2A1 | c.1945G>T (p.Ala649Ser) c.1570G>T (p.Ala524Ser) | |
16 | g.28900762C>A | CA395411284 | ATP2A1 | c.1946C>A (p.Ala649Asp) c.1571C>A (p.Ala524Asp) | |
16 | g.28900762C= | CA2215884936 | ATP2A1 | c.1946C= (p.Ala649=) c.1571C= (p.Ala524=) | |
16 | g.28900762C>G | CA395411285 | ATP2A1 | c.1946C>G (p.Ala649Gly) c.1571C>G (p.Ala524Gly) | |
16 | g.28900762C>T | CA395411286 | ATP2A1 | c.1946C>T (p.Ala649Val) c.1571C>T (p.Ala524Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.28900763C>A | CA494874392 | ATP2A1 | c.1947C>A (p.Ala649=) c.1572C>A (p.Ala524=) | |
16 | g.28900763C= | CA2215884942 | ATP2A1 | c.1947C= (p.Ala649=) c.1572C= (p.Ala524=) | |
16 | g.28900763C>G | CA494874393 | ATP2A1 | c.1947C>G (p.Ala649=) c.1572C>G (p.Ala524=) | dbSNP |
16 | g.28900763C>T | CA494874391 | ATP2A1 | c.1947C>T (p.Ala649=) c.1572C>T (p.Ala524=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>A | CA7987123 | ATP2A1 | c.1948G>A (p.Asp650Asn) c.1573G>A (p.Asp525Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.28900764G>C | CA395411287 | ATP2A1 | c.1948G>C (p.Asp650His) c.1573G>C (p.Asp525His) | |
16 | g.28900764G= | CA2215884950 | ATP2A1 | c.1948G= (p.Asp650=) c.1573G= (p.Asp525=) | |
16 | g.28900764G>T | CA7987124 | ATP2A1 | c.1948G>T (p.Asp650Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP ExAC gnomAD v2 |